At a very early stage Mike and Helen Tozer could see the challenges with their son Josiah’s development – across the board Josiah was missing milestones. They were very concerned to understand the cause of the delay.
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With Dr Jonathan Cohen MD from a video produced in 2017. Discussion of developmental delay and other symptoms which warrant referral for a DNA test for Fragile X, and the role of family history in a diagnosis.
Fragile X Podcasts
Concise explanation of the link between Fragile X premutation and early menopause. 25% of women who are carriers of Fragile X will undergo Primary Ovarian Insufficiency/early menopause. It is recommended that anyone has undiagnosed early menopause be screened for the FMR1 premutation.
Fragile X Podcasts
Young women with the FMR1 pre-mutation ie, young women who are carriers of Fragile X, are at risk of premature ovarian failure.
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Fragile X Carrier Family / FXTAS Clinic is a dedicated monthly service for carriers of Fragile X, initially for those who have some concerns about or may be at risk of developing FXTAS – Fragile X-associated Tremor Ataxia syndrome.
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This booklet is designed to encourage women who are Fragile X premutation carriers to take control of their own health and to pass on this information to their families and if needed, health care professionals.
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The challenges faced by people who have Fragile X syndrome in securing employment opportunities are many. In this 3-minute film Zoe, Marty, and Rosie share their experiences in looking for work.
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At the HealthEd GP Education Day held in Melbourne in October 2015, Dr Jane Tracy from the Centre for Developmental Disability Health Victoria gave an excellent presentation titled “GPs, Healthcare and Patients with Intellectual Disability and/or Autism”.
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Fragile X Podcasts
Your generous donation will help FXAA ensure people living with Fragile X are connected, included, understood and empowered. Specifically, your donation will help us maintain and deliver support and connections to the Fragile X community around Australia: 1. Counselling support 2. FXAA Helpline - available 5 days per week - 1300 394 636 3. Webinar program 4. Peer connection and referrals 5. Advocacy work – for example, our Fragile X Care | Adults & Ageing research study. This is the first Australian study on the support needs, health & wellbeing of adults with Fragile X syndrome as they age. All support is sincerely appreciated and helps us make a difference for the Fragile X community.
